Spot the Early Signs of MLD

The Excellence in Pediatrics' Spot The Early Signs program targets under-diagnosed or late-diagnosed conditions where early detection and treatment can drastically improve patient outcomes and quality of life. Metachromatic Leukodystrophy (MLD) exemplifies such conditions, with its early symptoms often mistaken for other diseases, leading to significant diagnostic delays. These delays can severely impact disease progression and patient well-being. EIP has established the MLD Spot the Early Signs Resource Centre to educate local medical communities and expand the network of trained frontline healthcare professionals. The Resource Centre offers collaborative tools, educational materials, and free access to recorded webinars, aiming to empower healthcare professionals to consider rare diseases early in their diagnostic process. Discover more about our resources, upcoming webinars, and how you can join us in making a difference at the Resources Section of our website.

Join Our New Live Webinars
on Metachromatic Leukodystrophy (MLD)

We invite you to participate in our upcoming webinars focusing on Metachromatic Leukodystrophy (MLD), a rare hereditary disorder characterized by the harmful accumulation of sulfatides. Misdiagnosis and delayed treatments at early stages can significantly affect patient outcomes due to the subtlety of early symptoms and their similarity to other conditions.

What Will You Gain?

Enhanced ability to recognize early signs of MLD.
Insights into navigating the diagnostic journey.
Updates on current and forthcoming treatment options.

Strengthen your diagnostic skills and improve outcomes for children with MLD by joining us in this crucial conversation. Register today and be part of making a difference!

Webinar Benefits:

Free Registration: Choose to attend live or watch the videos on-demand at your convenience.
Certificate of Attendance: Issued by the Excellence in Pediatrics Institute upon completion of a feedback survey for each session you attend.

Secure your spot
and receive a link to join on the webinar day.

2nd Webinar in the series

Early Diagnosis of Metachromatic Leukodystrophy
Understanding the Diagnostic Journey of Patients

Join Prof. Paul Gissen and Dr Anna Ardissone for a live session on:

Wednesday, 22 January 2025
at 13:00 Central European Time
(60 minutes)

Join us for an insightful session focused on the diagnostic journey of patients with Metachromatic Leukodystrophy (MLD). This webinar aims to enhance understanding of the crucial pathways to early diagnosis, explore improvements in diagnostic processes, and underscore the significant impact of timely intervention on patient outcomes. Ideal for healthcare professionals, this session will provide valuable insights into overcoming the challenges in recognizing early symptoms and ensuring a swift, accurate diagnosis.

3rd Webinar in the series

Rare Diseases – Current and Upcoming Treatments

Join Dr Dipak Ram and Dr Mireia del Toro for a live session on:

Wednesday, 29 January 2025
at 13:00 Central European Time
(60 minutes)

Dive into the latest advancements in treatments for Metachromatic Leukodystrophy (MLD) and other lysosomal storage disorders (LSDs) in our upcoming webinar. This session will focus on recognizing key signs of these conditions, reviewing cutting-edge therapies, and understanding best practices in treatment protocols. Participants will also gain insights into the benefits of a multidisciplinary care team approach, emphasizing comprehensive and coordinated treatment strategies. This webinar is essential for healthcare professionals looking to deepen their expertise in managing rare diseases effectively.

Plus, the broadcast of the recorded session
from the 16th Excellence in Pediatrics Conference in Barcelona

Differential Diagnosis Of Neurodegenerative Lysosomal Storage Disorders

Watch the presentation of Prof. Paul Gissen on:

Wednesday, 5 February 2025
at 13:00 Central European Time
(60 minutes)

Gain crucial insights into differentiating neurodegenerative lysosomal storage disorders (LSDs) in our specialized webinar. This session will equip healthcare professionals with the knowledge to identify key clinical features, understand overlapping symptoms among various LSDs, and utilize advanced diagnostic tools effectively. The webinar will also address the challenges in distinguishing these disorders from other neurodegenerative conditions, facilitating more accurate and timely diagnoses. This is an essential session for those involved in the neurological and genetic assessment of rare diseases.

We will also broadcast the sessions through our Linkedin page

Plus, the sessions are broadcast
through our YouTube Channel

VIDEOS OF RECORDED WEBINARS ON MLD | 12 SESSIONS

Successfully Spotting the Early Signs of Metachromatic Leukodystrophy (MLDS4M1)

Dr Francesca Fumagalli and Dr Alejandra Darling

MLD Screening Update - Pre-Symptomatic identification

Lucia Laugwitz (University of Tuebingen, Germany)

Avoiding Missing the Early-onset Clinical Manifestations of MLD in Everyday Practice

Alberto Zambon IRCCS Ospedale San Raffaele, Milan, Italy

See all

PUBLICATIONS

Clinical effectiveness and safety for treatment options of MLD in children

Orphanet Journal of Rare Diseases

Newborn screening in MLD – European consensus-based recommendations

European Journal of Paediatric Neurology

Acute-onset paralytic strabismus in toddlers as an early sign of late-infantile MLD

European Journal of Paediatric Neurology

See all

JOIN THE PROGRAM NETWORK

Join the Spot the Early Sign Program Network and help mobilise child healthcare professionals' collective power to ’think rare’ and look for the signs of rare diseases in every consultation. As a network member, you can volunteer as the primary contact point in your clinic, hospital or institution and disseminate the Spot the Early Signs material and resources to your colleagues. You can also volunteer to deliver a Spot the Early Signs Webinar in a local language with all slides and material provided by EIP. Signing up and accessing all the latest guidance, webinars, and educational materials is free.

Add your details

First Name*

Last Name*

Email*

Mobile phone

Send me email updates

Send me text messages

Address (Street, City, State, Zip)

Country

I want to volunteer

ARE YOU INTERESTED IN OTHER RARE DISEASES?



Alpha-mannosidosis: Minimising Delays in Diagnosis and Referral of Patients The symptoms, severity, and progression of AM vary widely between individuals, making diagnosis challenging and often delayed. Minimising the time to diagnosis is important in ensuring that individuals with AM and their families receive timely access to support and specialist MDT care. Visit our resource centre to access 6 free-to-view webinars designed to help you understand the disease and navigate the referral diagnosis process effectively.

Metachromatic Leukodystrophy: Minimising Delays in Diagnosis and Referral of Patients Early-onset symptoms can often be confused with those of other conditions, leading to misdiagnosis, incorrect referrals, and delays in treatment. Visit our resource centre on MLD to access 10 free-to-view webinars designed to help you understand the disease and navigate the referral diagnosis process effectively.

Mucopolysaccharidosis: Understanding the path to successful diagnosis of MPS in children Misdiagnosis of MPS often leads to delayed diagnosis, as symptoms are commonly mistaken for other conditions. This frequently results in attempts to treat symptoms directly, thus postponing the actual diagnosis and treatment or referring the patient to incorrect pediatric specialties. Explore our MPS resource centre to discover 38 free webinars. These sessions are tailored to enhance your understanding of the disease and guide you through the referral and diagnosis process.